Familial Meniere DiseaseGene: PTPN22
Comment when marking as ready: Lopez-Escamez et al 2010 (PMID:19780033) reported a significant association between SNV rs2476601 in PTPN22 and 52 patients with Bilateral Meniere Disease in a case control study but Reviewer reports this was not confirmed in replication studies. No other reports of association in OMIM, Gene2Phenotype or PubMed searches. Therefore leaving this gene rating as red.
Created: 21 Mar 2018, 3:13 p.m.
This gene is not associated with bilateral MD, since replication studies did not confirm it.
Created: 20 Feb 2018, 6 p.m.
External reviews collated. Internal clinical input. Ready for version 1.
This gene has been classified as Red List (Low Evidence).
Publications for PTPN22 were set to 28787010; 19780033
PTPN22 was added to Familial Meniere Disease panel. Sources: Literature
PTPN22 was created by Eleanor Williams